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Journal Abstract Search

437 related items for PubMed ID: 8058286

  • 41. Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors.
    Kedzierski W, Lloyd M, Birch DG, Bok D, Travis GH.
    Invest Ophthalmol Vis Sci; 1997 Feb; 38(2):498-509. PubMed ID: 9040483
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  • 43. Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
    Schatz P, Abrahamson M, Eksandh L, Ponjavic V, Andréasson S.
    Acta Ophthalmol Scand; 2003 Oct; 81(5):500-7. PubMed ID: 14510799
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  • 44. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
    Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.
    Ophthalmology; 2005 Sep; 112(9):1592-8. PubMed ID: 16019073
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  • 46. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
    Grüning G, Millan JM, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, Gal A.
    Hum Mutat; 1994 Sep; 3(3):321-3. PubMed ID: 8019570
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  • 47. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
    Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J.
    Am J Ophthalmol; 1996 Jan; 121(1):19-25. PubMed ID: 8554077
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  • 48. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
    Keen TJ, Inglehearn CF.
    Hum Mutat; 1996 Jan; 8(4):297-303. PubMed ID: 8956033
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  • 49. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.
    Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 1999 Oct; 117(10):1373-83. PubMed ID: 10532447
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  • 50. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.
    Souied EH, Rozet JM, Gerber S, Dufier JL, Soubrane G, Coscas G, Munnich A, Kaplan J.
    Eur J Ophthalmol; 1998 Oct; 8(2):98-101. PubMed ID: 9673478
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  • 51. Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci.
    Ray K, Acland GM, Aguirre GD.
    Invest Ophthalmol Vis Sci; 1996 Apr; 37(5):783-94. PubMed ID: 8603863
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  • 53. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
    Nakazawa M, Kikawa E, Chida Y, Tamai M.
    Hum Mol Genet; 1994 Jul; 3(7):1195-6. PubMed ID: 7981698
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